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Neoplasms affecting the nervous system represent a group with prominent genetic and phenotypic diversity. Large multi-institutional studies and the Cancer Genome Atlas have started to clarify the basic drivers in the major tumors involving the nervous system. Major biomarkers that have been widely accepted in the area of diffuse gliomas include MGMT promoter methylation, IDH mutations, and 1p19q co-deletion that have become standard of care for molecular testing in routine clinical settings and prerequisites for clinical trial enrollment. Other recent biomarkers that are increasingly applied include TERT promoter and ATRX mutations that identify molecular subgroups of diffuse gliomas in conjunction with other alterations. The field of pediatric brain tumors has also generated a wealth of data relevant for biomarker development, resulting in the identification of recurrent fusion events (e.g., KIAA1549-BRAF-, MYB, and MYBL1 rearrangements in pediatric gliomas). Global molecular profiling and whole exome and genome sequencing efforts have also identified major drivers and molecular subtypes of medulloblastoma, meningioma, embryonal neoplasms, germ cell tumors, and malignant peripheral nerve sheath tumors.

Biobanking represents an essential activity for biomarker discovery. The appropriate storage of tissues, fluids, and biomolecules requires careful planning, resources, and active involvement of neuropathology. Samples stored for neoplastic neuropathology in particular include snap-frozen and formalin-fixed paraffin-embedded (FFPE) tissues, as well as cerebrospinal fluid (CSF), blood, and saliva for biomarker discovery and nonneoplastic DNA controls. Although biobanking is not as tightly regulated as clinical pathology laboratories, there are increasing efforts to implement accepted guidelines and standardize sample collection for quality control processes. In addition, biobanking activities must be undertaken following ethical guidelines, as well as institutional review board approval.